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Alliance of Genome Resources

Alliance of Genome Resources is a gene dataset, which contains curated genome information essential for the understanding of the genetics and genomic basis of human biology, health and disease. All data is retrieved from six major model organism databases and the Gene Ontology including FlyBase, Mouse Genome Database (MGI), Rat Genome Database (RGD), Saccharomyces Genome Database (SGD), WormBase, Zebrafish Information Network (ZFIN), and the GO Consortium. In GlyCosmos, only glycan-related disease information has been extracted from Alliance of Genome Resources.

Source	Last Updated
Alliance of Genome Resources	January 28, 2025

Displaying entries **10001 - 10025** of **14279** in total

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Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References
DOID:0080652	calcium oxalate nephrolithiasis	HGNC:10993	Homo sapiens (human)	10861	SLC26A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3748	esophagus squamous cell carcinoma	HGNC:1455	Homo sapiens (human)	811	CALR	mutant phenotype evidence used in manual assertion	PMID:19684620 PMID:23814025
DOID:0060041	autism spectrum disorder	MGI:1930016	Mus musculus (house mouse)	58234	Shank3	author statement supported by traceable reference	MGI:5499103 PMID:21167025 PMID:21423165 PMID:21558424 PMID:26134648 PMID:26559786 PMID:26687841 PMID:26886798 PMID:27189882 PMID:27492494 PMID:30610205
DOID:5419	schizophrenia	MGI:1338076	Mus musculus (house mouse)	15273	Hivep2	author statement supported by traceable reference	PMID:23389689 PMID:29233179
DOID:8634	prostate carcinoma in situ	HGNC:2594	Homo sapiens (human)	1588	CYP19A1	mutant phenotype evidence used in manual assertion	PMID:19700748
DOID:9253	gastrointestinal stromal tumor	MGI:96677	Mus musculus (house mouse)	16590	Kit	author statement supported by traceable reference	PMID:12754375 PMID:16061643 PMID:18098338 PMID:22652566
DOID:2030	anxiety disorder	RGD:2848	Rattus norvegicus (Norway rat)	25187	Htr2c	direct assay evidence used in manual assertion	PMID:17074317
DOID:0110820	hereditary spastic paraplegia 75	HGNC:6783	Homo sapiens (human)	4099	MAG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050861	colorectal adenocarcinoma	HGNC:12828	Homo sapiens (human)	7515	XRCC1	inference by association of genotype from phenotype used in manual assertion	PMID:19908066
DOID:783	end stage renal disease	MGI:1330281	Mus musculus (house mouse)	12488	Cd2ap	author statement supported by traceable reference	PMID:30612599
DOID:0080561	congenital disorder of glycosylation Ii	HGNC:23159	Homo sapiens (human)	85365	ALG2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060903	thrombosis	HGNC:3616	Homo sapiens (human)	2212	FCGR2A	mutant phenotype evidence used in manual assertion	PMID:18983497 PMID:20585032
DOID:7575	pancreatic intraductal papillary-mucinous neoplasm	HGNC:11998	Homo sapiens (human)	7157	TP53	inference by association of genotype from phenotype used in manual assertion	PMID:28930868
DOID:0111918	spermatogenic failure 40	HGNC:25325	Homo sapiens (human)	255101	CFAP65	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080807	autosomal dominant craniodiaphyseal dysplasia	HGNC:13771	Homo sapiens (human)	50964	SOST	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050571	congenital disorder of glycosylation type II	HGNC:18619	Homo sapiens (human)	83548	COG3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:332	amyotrophic lateral sclerosis	WB:WBGene00006575	Caenorhabditis elegans	175502	tir-1	combinatorial experimental and author inference evidence used in manual assertion	PMID:26059317
DOID:3969	papillary thyroid carcinoma	HGNC:7989	Homo sapiens (human)	4893	NRAS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:8552	chronic myeloid leukemia	HGNC:76	Homo sapiens (human)	25	ABL1	inference by association of genotype from phenotype used in manual assertion	PMID:12067277 PMID:23289634 PMID:3021820 RGD:7240710
DOID:0110467	autosomal recessive nonsyndromic deafness 12	MGI:1890219	Mus musculus (house mouse)	22295	Cdh23	author statement supported by traceable reference	PMID:19270079 PMID:20644563 PMID:21689626
DOID:8398	osteoarthritis	HGNC:1069	Homo sapiens (human)	650	BMP2	inference by association of genotype from phenotype used in manual assertion	PMID:15334463
DOID:1596	depressive disorder	HGNC:4079	Homo sapiens (human)	2558	GABRA5	inference by association of genotype from phenotype used in manual assertion	PMID:9267853
DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4	HGNC:14135	Homo sapiens (human)	9091	PIGQ	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060246	MASA syndrome	WB:WBGene00004732	Caenorhabditis elegans	177602	sax-7	genetic interaction evidence used in manual assertion	PMID:25488979
DOID:557	kidney disease	WB:WBGene00016848	Caenorhabditis elegans	177557	klo-1	combinatorial experimental and author inference evidence used in manual assertion	PMID:21177529

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